Canonical Allele Identifier: CA2000562152
Community Standard Title: NM_003002.4(SDHD):c.304C= (p.His102=)
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112089001C= , CM000673.2:g.112089001C= GRCh38
NC_000011.9:g.111959725C= , CM000673.1:g.111959725C= GRCh37
NC_000011.8:g.111464935C= NCBI36
NG_012337.2:g.7155C=
NG_033145.1:g.2798G=
NG_012337.3:g.7155C=

Transcript Alleles

HGVS Amino-acid Change
NM_003002.4:c.304C= MANE Select NP_002993.1:p.His102=
ENST00000375549.8:c.304C= MANE Select ENSP00000364699.3:p.His102=
NM_001276503.1:c.169+1028C= NP_001263432.1:n.169+1028C=
NM_001276503.2:c.169+1028C= NP_001263432.1:n.169+1028C=
NM_001276504.1:c.187C= NP_001263433.1:p.His63=
NM_001276504.2:c.187C= NP_001263433.1:p.His63=
NM_001276506.1:c.304C= NP_001263435.1:p.His102=
NM_001276506.2:c.304C= NP_001263435.1:p.His102=
NM_003002.3:c.304C= NP_002993.1:p.His102=
NR_077060.1:n.388C=
NR_077060.2:n.339C=
ENST00000375549.7:c.304C= ENSP00000364699.3:p.His102=
ENST00000525291.5:c.187C= ENSP00000436669.1:p.His63=
ENST00000525987.5:n.309C=
ENST00000526592.5:c.304C= ENSP00000432005.1:p.His102=
ENST00000528021.5:c.304C= ENSP00000432465.1:p.His102=
ENST00000528021.6:c.304C= ENSP00000432465.1:p.His102=
ENST00000528048.5:c.169+1028C= ENSP00000436217.1:n.169+1028C=
ENST00000528182.5:c.304C= ENSP00000435475.1:p.His102=
ENST00000530923.5:c.294C=
ENST00000530923.6:c.304C= ENSP00000432946.2:p.His102=
ENST00000531744.5:c.304C= ENSP00000456957.1:p.His102=
ENST00000532699.1:c.304C= ENSP00000456434.1:p.His102=
ENST00000534010.1:c.135C=
ENST00000534010.2:c.304C= ENSP00000433202.2:p.His102=
ENST00000614349.4:c.304C= ENSP00000480666.1:p.His102=
ENST00000640554.1:c.*376C= ENSP00000491141.1:n.*376C=